Test 2 memorisation Flashcards

1
Q

RET

A

Receptor for Neurotrophic factors

a pt mutation of which is associated w/multiple endocrine neoplasia 2A and B, familial medullary thyroid carcinomas

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2
Q

KIT

A

Receptor for KIT ligand

a pt mutation of which is associated w/GI stromal tumors, seminomas, leukemias

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3
Q

KRAS

A

a GTP-binding protein

a pt mutation of which is associated with colon, lung, pancreatic tumors

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4
Q

JAK2

A

JAK/STAT signal transduction
a translocation that is associated with myeloproliferative disorders
acute lymphoblastic leukemia

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5
Q

MYC/NMYC

A

transcriptional activators, in which
a translocation is associated with Burkitt lymphoma
a amplification is associated with neuroblastoma

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6
Q

CDK4

A

Cyclin-dependent kinase

an amplification/point mutation is associated with glioblastoma, melanoma, sarcoma

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7
Q

APC

A

tumor suppressor gene
makes adenomatous polyposis coli protein
inhibits WNT signaling
associated with familial colonic polyps and carcinomas, carcinomas of stomach, colon, pancreas; melanoma

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8
Q

NF1

A

tumor suppressor gene
makes neurofibromin-1
inhibits RAS/MAPK signaling
associated with neurofibromatosis type 1 and neuroblastoma, juvenile myeloid leukemia

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9
Q

RB

A

tumor suppressor gene
makes retinoblastoma protein
inihibits G1/S transition during cell cycle progression
associated with familial retinoblastoma syndrome, retinoblastoma; osteosarcoma carcinomas of breast, colon, lung

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10
Q

TP53

A

makes p53 protein
arrests cell cycle and commences apoptosis in response to DNA damage
associated with Li-Fraumeni syndrome + most human cancers

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11
Q

Mesothelioma

A

malignant mesothelium tumor

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12
Q

Seminoma

A

malignant testicular epithelium (germ cells) tumor

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13
Q

Hamartomas

A

Disorganized by benign masses

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14
Q

Choristoma

A

Heterotopic rest of cells, somewhere where it’s not supposed to be

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15
Q

PDGFB

A

Overexpression will lead to astrocytoma

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16
Q

HST1, FGF3

A

are fibroblast growth factors, overexpression of which leads to osteosarcoma. amplification of which leads to stomach, bladder, breast cancers; meianoma

17
Q

TGF-A

A

overexpression of which leads to astrocytomas

18
Q

HGF

A

overexpression of which leads to hepatocellular carcinomas, thyroid cancer

19
Q

ERBB1/2

A

mutation of which leads to adenocarcinoma of lung

amplification of which leads to breast carcinoma

20
Q

FLT3

A

a FMS-like tyrosine kinase 3. a point mutation of which leads to leukemia

21
Q

PDGFRB

A

PDGF receptor, the overexpression of which will lead to gliomas. amplification of which will lead to leukemias

22
Q

ALK

A

ALK receptor. translocation of which causes adenocarcinoma of lung. fusion gene formation of certain lymphomas. point mutation leads to neuroblastoma

23
Q

ABL

A

a nonreceptor tyrosin kinase, a translocation of which leads to chronic myelogenous leukemia. point mutation of which leads to acute lymphoblastic leukemia

24
Q

BRAF

A

RAS signal transduction. a point mutation/translocation causes melanomas, leukemias, colon carcinoma, others

25
Q

CCND1 (Cyclin D1)

A

A cyclin. a translocation of which causes mantle cell lymphoma, multiple myeloma. amplification of which causes breast and esophageal cancers

26
Q

CIP/KIP family. p21 + p27

A

blocks cell cycle by binding to cyclin-CDK complexes
p21 is induced by tumor suppressor p53
p27 responds to growth suppressors such as TGF-beta

27
Q

INK4/ARF family

A

p16/INK4a binds to cyclin D-CDK4 and promotes the inhibitory effects of RB
p14/ARF increases p53 levels by inhibiting MDM2 activity

28
Q

WT1

A

a transcription factor associated with ilmn tumor-1, certain leukemias, and familial Wilms tumor